Wilms tumor mutational subclasses converge to drive CCND2 overexpression.
Medrxiv : The Preprint Server For Health Sciences
Xu, Lin L; Desai, Kavita K; Kim, Jiwoong J; Zhou, Qinbo Q; Guo, Lei L; Xiao, Xue X; Zhang, Yanfeng Y; Zhou, Li L; Yuksel, Aysen A; Catchpoole, Daniel R DR; Amatruda, James F JF; Chen, Kenneth S KS
Publication Date: 2023-02-02
Variant appearance in text: DICER1: 5426G>T; Gly1809Val
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Journal Of Medical Genetics
Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A
Publication Date: 2020-11-18
Variant appearance in text: DICER1: 5426G>T; G1809V
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Journal Of Medical Genetics
Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A
Publication Date: 2022-02
Variant appearance in text: DICER1: 5426G>T; G1809V
Genomic Evolution of Breast Cancer Metastasis and Relapse.
Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.
F1000Research
Brenneman, Mark M; Field, Amanda A; Yang, Jiandong J; Williams, Gretchen G; Doros, Leslie L; Rossi, Christopher C; Schultz, Kris Ann KA; Rosenberg, Avi A; Ivanovich, Jennifer J; Turner, Joyce J; Gordish-Dressman, Heather H; Stewart, Douglas D; Yu, Weiying W; Harris, Anne A; Schoettler, Peter P; Goodfellow, Paul P; Dehner, Louis L; Messinger, Yoav Y; Hill, D Ashley DA
Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.
Nature Communications
Rakheja, Dinesh D; Chen, Kenneth S KS; Liu, Yangjian Y; Shukla, Abhay A AA; Schmid, Vanessa V; Chang, Tsung-Cheng TC; Khokhar, Shama S; Wickiser, Jonathan E JE; Karandikar, Nitin J NJ; Malter, James S JS; Mendell, Joshua T JT; Amatruda, James F JF